The inheritance and developmental effects of a new recessive mutation in the mouse, blind-sterile (bs), are described. This mutation causes lenticular cataracts and glossy coat in males and females and sterility in males due to arrested spermatogenesis. Blind-sterile is located on chromosome 2, near agouti.
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http://dx.doi.org/10.1093/oxfordjournals.jhered.a109768 | DOI Listing |
Reprod Sci
July 2020
Guangdong and Shenzhen Key Laboratory of Male Reproductive Medicine and Genetics, Institute of Urology, Peking University Shenzhen Hospital, Shenzhen Peking University-The Hong Kong University of Science and Technology Medical Center, Shenzhen, 518036, China.
Sertoli cells are important for spermatogenesis not only by directly interacting with germ line cells in the seminiferous epithelium but also by constituting the blood-testis barrier (BTB) structure to create a favorable environment for spermatogenesis. Blind sterile (bs) male mice are infertile, with excessive germ cell apoptosis and spermatogenesis arrest. TBC1D20 (TBC1 domain family member 20) deficiency has been identified as the causative mutation in bs mice.
View Article and Find Full Text PDFBMC Genet
December 2014
Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, 8701 Watertown Plank, Milwaukee, WI, 53226, USA.
Background: Loss-of-function mutations in TBC1D20 cause Warburg Micro syndrome 4 (WARBM4), which is an autosomal recessive syndromic disorder characterized by eye, brain, and genital abnormalities. Blind sterile (bs) mice carry a Tbc1d20-null mutation and exhibit cataracts and testicular phenotypes similar to those observed in WARBM4 patients. In addition to TBC1D20, mutations in RAB3GAP1, RAB3GAP2 and RAB18 cause WARBM1-3 respectively.
View Article and Find Full Text PDFMol Genet Metab Rep
January 2014
Department of Cell Biology, Neurobiology, and Anatomy, Medical College of Wisconsin, Milwaukee, WI ; Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, WI.
Rhizomelic chondrodysplasia punctata (RCDP) is a genetically heterogeneous autosomal recessive syndrome characterized by congenital cataracts, shortening of the proximal limbs, neurological abnormalities, seizures, growth delays, and severe intellectual disability. Most RCDP children die in the first decade of life due to respiratory complications. Mutations in alkylglycerone phosphate synthase () cause RCDP type 3 (RCDP3).
View Article and Find Full Text PDFAm J Hum Genet
December 2013
Department of Cell Biology, Neurobiology, and Anatomy, Medical College of Wisconsin, Milwaukee, WI 53226, USA.
blind sterile (bs) is a spontaneous autosomal-recessive mouse mutation discovered more than 30 years ago. Phenotypically, bs mice exhibit nuclear cataracts and male infertility; genetic analyses assigned the bs locus to mouse chromosome 2. In this study, we first positionally cloned the bs locus and identified a putative causative mutation in the Tbc1d20 gene.
View Article and Find Full Text PDFMol Genet Metab
May 2011
Department of Cell Biology, Neurobiology, and Anatomy, Medical College of Wisconsin, Milwaukee, WI 53226, USA.
Blind sterile 2 (bs2) is a spontaneous autosomal recessive mouse mutation exhibiting cataracts and male sterility. Detailed clinical and histological evaluation revealed that bs2 mice have cataracts resulting from severely disrupted lens fiber cells. Analysis of bs2 testes revealed the absence of mature sperm and the presence of large multinucleate cells within the lumens of seminiferous tubules.
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